JIMD Reports

JIMD Reports, Volume 24

Editors: Zschocke, J., Baumgartner, M., Morava-Kozicz, E., Patterson, M., Rahman, S., Peters, V. (Eds.)

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  • Unique collection of case and research reports on rare metabolic disorders
  • Contains unusual or previously unrecorded features relevant to metabolic disorders
  • All contributions rigorously peer-reviewed
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eBook $109.00
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  • ISBN 978-3-662-48227-8
  • Digitally watermarked, DRM-free
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  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.99
price for USA in USD
  • ISBN 978-3-662-48226-1
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  • Usually dispatched within 3 to 5 business days.
About this book

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Table of contents (15 chapters)

Table of contents (15 chapters)
  • Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations

    Usher, Jeannette L. (et al.)

    Pages 3-11

  • Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria

    Gertsman, Ilya (et al.)

    Pages 13-20

  • Relationship Between Serum Concentrations of Nitisinone and Its Effect on Homogentisic Acid and Tyrosine in Patients with Alkaptonuria

    Olsson, Birgitta (et al.)

    Pages 21-27

  • Investigating the Robustness and Diagnostic Potential of Extracellular Matrix Remodelling Biomarkers in Alkaptonuria

    Genovese, F. (et al.)

    Pages 29-37

  • Age-Related Deviation of Gait from Normality in Alkaptonuria

    Barton, Gabor J. (et al.)

    Pages 39-44

Buy this book

eBook $109.00
price for USA in USD (gross)
  • ISBN 978-3-662-48227-8
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $139.99
price for USA in USD
  • ISBN 978-3-662-48226-1
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
JIMD Reports, Volume 24
Editors
  • Johannes Zschocke
  • Matthias Baumgartner
  • Eva Morava-Kozicz
  • Marc Patterson
  • Shamima Rahman
  • Verena Peters
Series Title
JIMD Reports
Series Volume
24
Copyright
2015
Publisher
Springer-Verlag Berlin Heidelberg
Copyright Holder
SSIEM and Springer-Verlag Berlin Heidelberg
eBook ISBN
978-3-662-48227-8
DOI
10.1007/978-3-662-48227-8
Softcover ISBN
978-3-662-48226-1
Series ISSN
2192-8304
Edition Number
1
Number of Pages
VI, 128
Number of Illustrations
20 b/w illustrations, 10 illustrations in colour
Topics